Apolipoprotein B: Genetic Variants Provide Insight into Structure and Function
作者： Philippa Talmud , Alison Dunning , Steve Humphries
DOI: 10.1007/978-3-642-84634-2_17
关键词: Endoplasmic reticulum 、 Lipoprotein particle 、 Secretory protein 、 Chemistry 、 Apolipoprotein B 、 Signal peptide 、 Secretion 、 Ligand (biochemistry) 、 Cell biology 、 Golgi apparatus
摘要: In order to fulfil its function as a secretory protein, lipid transporter and ligand for the LDLreceptor, apolipoprotein B (apo B) has number of functional domains; signal peptide that directs translocation protein across endoplasmic reticulum Golgi apparatus, region binds LDL-receptor domain binding maintain integrity lipoprotein particle stability during lipolysis. Much our understanding structure-function aspects apo have come from studies rare genetic variants. Several disorders metabolism are directly linked gene or associated with biosynthesis, assembly secretion containing lipoproteins.
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sci-hub.st 参考文章(37)
Alicia Sanchez-Mazas, E. Bütler-Brunner, R. Bütler, Georges Breguet, A worldwide population study of the Ag-system haplotypes, a genetic polymorphism of human low-density lipoprotein. American Journal of Human Genetics. ,vol. 46, pp. 502- 517 ,(1990)
L S Huang, M E Ripps, S H Korman, R J Deckelbaum, J L Breslow, Hypobetalipoproteinemia due to an apolipoprotein B gene exon 21 deletion derived by Alu-Alu recombination. Journal of Biological Chemistry. ,vol. 264, pp. 11394- 11400 ,(1989) , 10.1016/S0021-9258(18)60477-6
S Lund-Katz, T L Innerarity, K S Arnold, L K Curtiss, M C Phillips, 13C NMR evidence that substitution of glutamine for arginine 3500 in familial defective apolipoprotein B-100 disrupts the conformation of the receptor-binding domain. Journal of Biological Chemistry. ,vol. 266, pp. 2701- 2704 ,(1991) , 10.1016/S0021-9258(18)49900-0
Z M Yao, B D Blackhart, M F Linton, S M Taylor, S G Young, B J McCarthy, Expression of carboxyl-terminally truncated forms of human apolipoprotein B in rat hepatoma cells. Evidence that the length of apolipoprotein B has a major effect on the buoyant density of the secreted lipoproteins. Journal of Biological Chemistry. ,vol. 266, pp. 3300- 3308 ,(1991) , 10.1016/S0021-9258(18)49988-7
KG Parhofer, A Daugherty, M Kinoshita, G Schonfeld, Enhanced clearance from plasma of low density lipoproteins containing a truncated apolipoprotein, apoB-89. Journal of Lipid Research. ,vol. 31, pp. 2001- 2007 ,(1990) , 10.1016/S0022-2275(20)42264-3
RD Wagner, ES Krul, J Tang, KG Parhofer, K Garlock, P Talmud, G Schonfeld, ApoB-54.8, a truncated apolipoprotein found primarily in VLDL, is associated with a nonsense mutation in the apoB gene and hypobetalipoproteinemia. Journal of Lipid Research. ,vol. 32, pp. 1001- 1011 ,(1991) , 10.1016/S0022-2275(20)41997-2
C R Pullinger, J D North, B B Teng, V A Rifici, A E Ronhild de Brito, J Scott, The apolipoprotein B gene is constitutively expressed in HepG2 cells: regulation of secretion by oleic acid, albumin, and insulin, and measurement of the mRNA half-life. Journal of Lipid Research. ,vol. 30, pp. 1065- 1077 ,(1989) , 10.1016/S0022-2275(20)38287-0
M J Tikkanen, J Viikari, H K Akerblom, E Pesonen, Apolipoprotein B polymorphism and altered apolipoprotein B and low density lipoprotein cholesterol concentrations in Finnish children. BMJ. ,vol. 296, pp. 169- 170 ,(1988) , 10.1136/BMJ.296.6616.169
X B Wang, P Schlapfer, Y H Ma, R Bütler, J Elovson, V N Schumaker, Apolipoprotein B: the Ag(a1/d) immunogenetic polymorphism coincides with a T-to-C substitution at nucleotide 1981, creating an Alu I restriction site. Arteriosclerosis, Thrombosis, and Vascular Biology. ,vol. 8, pp. 429- 435 ,(1988) , 10.1161/01.ATV.8.4.429
A.C. Allison, B.S. Blumberg, AN ISOPRECIPITATION REACTION DISTINGUISHING HUMAN SERUM-PROTEIN TYPES The Lancet. ,vol. 277, pp. 634- 637 ,(1961) , 10.1016/S0140-6736(61)91654-3